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ORPHA:538

Lymphangioleiomyomatosis

low confidenceDisorder

Also known as: LAM

Publications

7,237

Trials

30

Interventional, condition-specific

Researchers

1,096

Distinct authors in sample

Gene link

TSC1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, multiple cystic lung disease characterized by cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

lung lymphangioleiomyomatosis · lung lymphangiomyomatosis

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — TSC1

  2. LiteraturePresent

    7,237 matched papers (3,969 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Abnormal morphology of female internal genitalia; Seizure; Pneumothorax) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    3 FDA designations (2 FDA orphan-indication approvals) — e.g. sirolimus Source

  6. Interventional trialPresent

    30 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (TSC1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0006277

  • Abnormal morphology of female internal genitalia
  • Seizure
  • Pneumothorax
  • Pulmonary infiltrates
  • Chylothorax

Showing 5 of 36 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · 2 with FDA orphan-indication approval

  • FDA sirolimusLymphangioleiomyomatosis · 2014-11-17 · Not FDA Approved for Orphan Indication
  • FDA sirolimusLymphangioleiomyomatosis · 2014-06-25 · Not FDA Approved for Orphan Indication
  • FDA sirolimus (Rapamune)Lymphangioleiomyomatosis · 2012-10-31

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0006277

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,237

7,237 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,237 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,969 in the last 10 years · low confidence

Phrase hits: 7,237 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,096

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gupta N8 papers · 2026

    Division of Pulmonary, Critical Care, and Sleep Medicine, University of Cincinnati, Cincinnati, Ohio, USA.

    Papers in Europe PMC
  2. 02
    Henske EP7 papers · 2026

    Brigham and Women's Hospital and Harvard Medical School Boston, Massachusetts.

    Papers in Europe PMC
  3. 03
    Zhang X7 papers · 2026

    Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, #1 Shuaifuyuan Hutong, Beijing, China.

    Papers in Europe PMC
  4. 04
    Diesler R5 papers · 2026

    Brigham and Women's Hospital and Harvard Medical School Boston, Massachusetts.

    Papers in Europe PMC
  5. 05
    Guo M5 papers · 2026

    The Perinatal Institute and Section of Neonatology, Perinatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

    Papers in Europe PMC
  6. 06
    Johnson SR5 papers · 2026

    University of Nottingham Nottingham, United Kingdom.

    Papers in Europe PMC
  7. 07
    McCarthy C5 papers · 2026

    School of Medicine, University College Dublin, Dublin, Ireland cormac.mccarthy@ucd.ie.

    Papers in Europe PMC
  8. 08
    Radzikowska E5 papers · 2026

    Department of Lung Diseases III, National Tuberculosis and Lung Disease Research Institute, Warsaw, Poland.

    Papers in Europe PMC
  9. 09
    Holz MK4 papers · 2026

    Department of Cell Biology and Anatomy, Graduate School of Biomedical Sciences, New York Medical College, Valhalla, New York, United States of America; Department of Biochemistry and Molecular Biology, Graduate School of Biomedical Sciences, New York Medical College, Valhalla, New York, United States of America. Electronic address: mholz@nymc.edu.

    Papers in Europe PMC
  10. 10
    Saluja P4 papers · 2026

    Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, OH, USA

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

30

interventional trials for this specific condition

30 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

30 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96th percentile).

low confidence · 96th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

30 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

18 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Lymphangioleiomyomatosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Lymphangioleiomyomatosis" OR "lung lymphangioleiomyomatosis" OR "lung lymphangiomyomatosis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Lymphangioleiomyomatosis" OR "lung lymphangioleiomyomatosis" OR "lung lymphangiomyomatosis"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 30 interventional · 18 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LAM

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:15:12.759Z